Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.A246delFs
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PAH

NM_000277.3:p.A246delFs

Associated Papers

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency.

Aulehla-Scholz C et al.

Human Mutation, 2003

Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

Hennermann JB et al.

Human Mutation, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."